Latest / Mama Making Podcast / Ushta Canteenwalla | What Your Genes Are Trying to Tell You: A Genetic Counselor's Guide to Pregnancy, IVF, and Reproductive Health

Transcript

Ushta Canteenwalla | What Your Genes Are Trying to Tell You: A Genetic Counselor's Guide to Pregnancy, IVF, and Reproductive Health · Mama Making Podcast

• 0:10
  SPEAKER_00: Hello and welcome to the Mama Making Podcast, where we share stories of moms making impact in their own lives and in the world around them.
• 0:18
  SPEAKER_00: I'm Jessica, and each week I sit down with women who are building businesses, leading communities, shaping culture, and redefining what success looks like inside of motherhood.
• 0:28
  SPEAKER_00: Because motherhood does not have to stop your ambition, it can transform it.
• 0:32
  SPEAKER_00: Now let's get into it.
• 0:38
  SPEAKER_00: Hello everyone, and welcome to the Mama Making Podcast.
• 0:41
  SPEAKER_00: I'm your host Jessica.
• 0:42
  SPEAKER_00: If you're new, welcome.
• 0:44
  SPEAKER_00: If you're not new, then welcome back.
• 0:45
  SPEAKER_00: Today I am thrilled to have Usha Daver Cantinwala on the podcast.
• 0:50
  SPEAKER_00: She's a board-certified licensed genetic counselor with over 20 years of experience.
• 0:55
  SPEAKER_00: She has managed a high-risk fetal center in a major NYC university medical center.
• 1:00
  SPEAKER_00: She's led a large team of genetic counselors at the top reproductive genetic testing lab and most recently founded Find Genetics, a telemedicine genetic counseling practice built to expand access and support people navigating prenatal and reproductive genetic health.
• 1:17
  SPEAKER_00: She works with people planning a pregnancy, an early pregnancy, and exploring IVF to help them understand their testing options, trust their decisions, and advocate for themselves in confidence.
• 1:27
  SPEAKER_00: Welcome, Usha.
• 1:28
  SPEAKER_00: Thanks for being here.
• 1:29
  SPEAKER_01: Thank you for having me, Jessica.
• 1:30
  SPEAKER_01: I'm excited to have our conversation today.
• 1:33
  SPEAKER_00: Yes.
• 1:33
  SPEAKER_00: So tell us a little bit more about you, who you are, where you're from, whatever you're comfortable sharing.
• 1:38
  SPEAKER_01: Yeah, absolutely.
• 1:39
  SPEAKER_01: So I have a telemedicine practice in genetic counseling, as you've heard in the intro.
• 1:44
  SPEAKER_01: But it's always interesting, I think, especially as moms, right?
• 1:48
  SPEAKER_01: I think so much of your podcast, your audience are moms kind of in this doing work.
• 1:54
  SPEAKER_01: And I started out working in a clinical setting, like you mentioned in the intro, made the decision to start my own practice after a good number of years of working in kind of a more traditional settings.
• 2:04
  SPEAKER_01: And part of that was a conscious decision in, you know, like how do I balance what it is that I'm truly passionate doing, you know, the work that I'm doing with the reality of having a family as well.
• 2:17
  SPEAKER_01: So I think starting my own practice was allowing me to grow in a way professionally and serve a need where there was a big gap.
• 2:25
  SPEAKER_01: Like, you know, not enough people have access to genetic counselors.
• 2:28
  SPEAKER_01: It's not easy to get connected to someone, especially when it you don't kind of fit into like clear buckets.
• 2:33
  SPEAKER_01: So I wanted to create a platform where people could easily connect to a genetic counselor, but also something that satisfied me in a way that other jobs weren't, where I could build it to fit the life that I want or design the life that I want, which is why kind of what led me to starting my own practice in the beginning.
• 2:49
  SPEAKER_00: Yeah.
• 2:49
  SPEAKER_00: Yeah, I love that.
• 2:50
  SPEAKER_00: I think something that I have found a common thread is so many of us moms are very passionate about whatever our chosen field is or area of interest, and fitting that into motherhood can be challenging.
• 3:03
  SPEAKER_00: So I have um immense respect for the moms who are like, I need to do this differently and I need to meet this need in a different way.
• 3:12
  SPEAKER_00: So, what was it that kind of pushed you to decide to start your own practice?
• 3:17
  SPEAKER_01: Yeah, yeah, absolutely.
• 3:18
  SPEAKER_01: You know, I started as a genetic counselor back in 2005, working at a major university medical center, leading a fetal um, you know, fetal disease team where anyone in pregnancy, if there was a complication that was found, was referred to the center basically to help coordinate their care, right?
• 3:36
  SPEAKER_01: With the whole premise of the, you know, the logistics of what is happening should be the least of your worries, right?
• 3:43
  SPEAKER_01: When you're told your pregnancy is affected with a heart condition, for example.
• 3:48
  SPEAKER_01: And, you know, I was doing that for quite a while.
• 3:52
  SPEAKER_01: I had my first, I was pregnant with my first child as well.
• 3:55
  SPEAKER_01: And I decided to take a break once I had my baby because I realized that, you know, the work that I was doing, I loved what I was doing, but I was on all the time.
• 4:04
  SPEAKER_01: I was there from, you know, like 6 30 in the morning till 7 30 at night.
• 4:08
  SPEAKER_01: And it just wasn't conducive to the way that I wanted to be with my son at that time.
• 4:13
  SPEAKER_01: So I took a break and I got actually got a lot of heat for that because, you know, in in the industry, people are like, you know, you you found such a unique, you know, career.
• 4:20
  SPEAKER_01: You found such a great place to work and you're giving all that up.
• 4:24
  SPEAKER_01: And I never saw it as giving anything up.
• 4:26
  SPEAKER_01: I just saw it as like a shift in the way that I was working and still kind of staying true to what I wanted.
• 4:31
  SPEAKER_01: Um, and then I kind of segued back, right?
• 4:33
  SPEAKER_01: I I now fast forward, I have three kids.
• 4:35
  SPEAKER_01: My oldest is almost 16, my youngest is eight, um, three boys.
• 4:39
  SPEAKER_01: And, you know, after that first job, I then kind of got some more leadership and managerial roles.
• 4:45
  SPEAKER_01: And what was really fascinating was, you know, I led a team of genetic counselors doing telemedicine.
• 4:51
  SPEAKER_01: And this was back in 20, you know, 2016, 17, 18, where telemedicine wasn't really a thing, right?
• 4:58
  SPEAKER_01: Like we hear so much more about telemedicine now with with after COVID, right?
• 5:03
  SPEAKER_01: Where we've gotten accustomed to having conversations over video.
• 5:08
  SPEAKER_01: But back in, you know, back during that time, it was something that was still pretty novel.
• 5:13
  SPEAKER_01: And it was working, right?
• 5:15
  SPEAKER_01: So, like this was a group of people that we were serving that were in the fertility space, people that were going through IVF and getting testing done.
• 5:23
  SPEAKER_01: And we had done small micro studies within the population of people that we worked with to ask to better understand, you know, does this model work?
• 5:32
  SPEAKER_01: Are people retaining the information?
• 5:33
  SPEAKER_01: Do they feel supported?
• 5:34
  SPEAKER_01: Um, do they feel like they can move forward in their pregnancies with a good understanding of what was told?
• 5:39
  SPEAKER_01: And the feedback was astonishing, right?
• 5:42
  SPEAKER_01: People not only felt heard, understood, but they felt more comfortable, which was an inadvertent bonus, right?
• 5:49
  SPEAKER_01: Because I think there's something about having a conversation where you're you're not in a waiting room at a medical center.
• 5:57
  SPEAKER_01: You didn't have to go there, find parking, sit in a waiting room, wait for that appointment.
• 6:02
  SPEAKER_01: You just kind of open your computer and it was so much more accessible.
• 6:05
  SPEAKER_01: People could then say, like, well, if I have a young child at home, I could just quickly take this call, or I could um, you know, get a conference room at my work or go sit in my car and have this conversation.
• 6:15
  SPEAKER_01: My partner can join me.
• 6:17
  SPEAKER_01: And there were so many benefits of it.
• 6:18
  SPEAKER_01: So I realized that telemedicine works, but it was also a period or a time where genetics was becoming more mainstream.
• 6:25
  SPEAKER_01: So companies like 23 and me were coming out, and a lot more people were questioning and curious about how does genetics apply to me, or, you know, I'm planning a pregnancy and I heard about some tests, but I'm not really sure if it's for me, or I have a coworker who had a child with and I'm worried, or my family history has something in it and I want to know if I could be at risk.
• 6:45
  SPEAKER_01: So a lot more people were reaching out, and there wasn't a great way for them to get connected with someone, right?
• 6:51
  SPEAKER_01: Like they didn't know where to go.
• 6:52
  SPEAKER_01: Like if you're not, if you're not kind of um in genetics and genetic counseling, typically if you're someone who has a family history of cancer, you know, you then you know where to go, or you're pregnant, you know where to go, or you have a child with, there's pediatric genetics.
• 7:06
  SPEAKER_01: But anything in between, even in the I'm planning a pregnancy, or I just walked out of my OB's office and they gave me a list of stuff and I have no idea what it is.
• 7:15
  SPEAKER_01: There's very little places for people to turn.
• 7:17
  SPEAKER_01: So I thought, why not create something that allowed for that?
• 7:20
  SPEAKER_01: So that's kind of the history of kind of what got me to creating fine genetics.
• 7:25
  SPEAKER_00: Yeah, and that's the perfect segue to share a little bit more about genetic testing and genetic counseling.
• 7:31
  SPEAKER_00: I think there everyone has like a vision of what they think genetic counseling is.
• 7:37
  SPEAKER_00: And a lot of times, like you said, it's when you um have some kind of diagnosis, you speak with a genetic counselor, or when you are already pregnant and something is off, or you get some kind of report and um you have to go talk to a genetic counselor, or you're doing IVF.
• 7:55
  SPEAKER_00: So I think there's a few like specific camps.
• 7:58
  SPEAKER_00: People understand what a genetic counselor does in those specific areas, but I'd love to hear more of a like a genetic counselor sweep of what you do exactly and how it applies to um like pre-conception, pregnancy, IVF, all the specialty areas that you cover.
• 8:18
  SPEAKER_01: Yeah.
• 8:18
  SPEAKER_01: Um, you know, I feel like there it tends to be a big misconception about genetic counseling and genetic testing.
• 8:24
  SPEAKER_01: Like oftentimes people look at it and say, well, it's not for me.
• 8:27
  SPEAKER_01: Like there's nothing wrong.
• 8:28
  SPEAKER_01: I don't really need to see someone.
• 8:30
  SPEAKER_01: And that's not unusual because most pregnancies are totally healthy and fine, right?
• 8:35
  SPEAKER_01: And most of us aren't walking around knowing like certain family histories.
• 8:39
  SPEAKER_01: But I always like to have people think about it slightly differently.
• 8:42
  SPEAKER_01: And that stems from a lot of the stories that I've heard from from patients that I've seen, right?
• 8:48
  SPEAKER_01: So even just this week, I was chatting with a colleague who told me that they were meeting with a family that unfortunately has a baby born with a lethal condition, where the baby's likely going to pass before the age of one or two.
• 9:02
  SPEAKER_01: Very devastating situation.
• 9:04
  SPEAKER_01: And the couple had mentioned, um, you know, no one ever told me that I could have tested for this.
• 9:10
  SPEAKER_01: No one offered it to me.
• 9:11
  SPEAKER_01: And those are the types of stories that always stick with me because so many times people say, I just didn't know, right?
• 9:19
  SPEAKER_01: Like I didn't know that there was something that was available to me to better understand what my risks could be.
• 9:24
  SPEAKER_01: Or it's a couple that I saw last week where they were 15 or 16 weeks pregnant, found out that their pregnancy is affected with a genetic condition.
• 9:33
  SPEAKER_01: And so, you know, people that are coming to me are people that are coming because there is something concerning.
• 9:39
  SPEAKER_01: But the theme that I keep seeing time and time again has really propelled me to create more advocacy and awareness for what you can do before.
• 9:48
  SPEAKER_01: And it's to really honor the stories that I'm hearing and the people who's had who've had these lived experiences to say, like, hey, you know, there are things that can be done earlier.
• 9:58
  SPEAKER_01: And what's really always shocking to me is, you know, people think, like, well, I'm I'm going to like a great OB and it's in like a major city.
• 10:06
  SPEAKER_01: Like, they'll tell me what to do, right?
• 10:09
  SPEAKER_01: Like, you go into your pregnancy thinking, you will be informed.
• 10:12
  SPEAKER_01: And most OBs are on top of it, right?
• 10:15
  SPEAKER_01: Most OBs do know the test to offer when it comes to genetics.
• 10:18
  SPEAKER_01: But the reality is, like, your OB probably had like, I don't know, a class on genetics in their whole training.
• 10:24
  SPEAKER_01: And they're, they have so many things they need to do in that first visit, right?
• 10:28
  SPEAKER_01: So it's not a knock on OBs.
• 10:29
  SPEAKER_01: Like they're doing amazing work and they they have so much on their plate to cover.
• 10:34
  SPEAKER_01: But the reality is the nuance of genetic testing that comes up can sometimes be missed or misunderstood.
• 10:40
  SPEAKER_01: And there are people who may never be offered certain testing that otherwise someone else in like the same exact situation in another OB office would be offered.
• 10:49
  SPEAKER_01: So if we were to break it down, right, like I like to think of it as there's testing that can be done before you're pregnant, and then testing that can be done only once you are pregnant.
• 10:58
  SPEAKER_01: And the stuff that can be done before you're pregnant is stuff that will look at to see whether or not you might be a carrier for a genetic condition that would put you at an increased risk.
• 11:09
  SPEAKER_01: So what that looks like is it's it's blood work that's done.
• 11:12
  SPEAKER_01: And because it's blood work on you looking at your genetics, it can be done at any point.
• 11:18
  SPEAKER_01: So it can be done, you know, obviously once you are pregnant, but ideally you want to do this before you're pregnant.
• 11:24
  SPEAKER_01: Because if you think about the timeline of things, it takes about two weeks to get results.
• 11:28
  SPEAKER_01: Now, if you're a carrier for a condition, the next step is to test your reproductive partner.
• 11:34
  SPEAKER_01: Because for most of these conditions, both reproductive partners would need to be a carrier for there to be an increased risk for a pregnancy to be affected with that condition.
• 11:43
  SPEAKER_01: So, say like you get testing done and you're found to be a carrier, you test your partner, your partner is found to be a carrier.
• 11:51
  SPEAKER_01: Well, now we know there's a 25% chance a baby could be affected with this condition.
• 11:55
  SPEAKER_01: And if you're having this conversation before you're pregnant, there's so many more options available to you to kind of process what that means, right?
• 12:03
  SPEAKER_01: Because you could say, okay, well, now that I know we're we're at an increased risk, maybe we will want to do IDF where we can test embryos and only transfer unaffected embryos.
• 12:13
  SPEAKER_01: Maybe you learn about that condition and you think, we're okay having a child with this condition, and we want to research as much as we can on treatments and the right specialist to see.
• 12:23
  SPEAKER_01: And maybe we need to deliver at a hospital that can handle this once baby's born.
• 12:28
  SPEAKER_01: So it allows you to have that conversation.
• 12:30
  SPEAKER_01: And importantly, it allows you to adjust your expectations because the reality is no one goes into pregnancy thinking my baby's gonna have an issue, right?
• 12:38
  SPEAKER_01: Like nobody wants that.
• 12:40
  SPEAKER_01: But getting mentally prepared and knowing that it's an adjustment of your expectations and almost grieving the loss of the pregnancy and the child that you thought you were going to have is super important and to allow yourself the space and the time to do so.
• 12:55
  SPEAKER_01: And then some people might say, like, you know, yes, we know we're at increased risk.
• 13:00
  SPEAKER_01: IDF is not for us, but maybe we want to do testing in early pregnancy and knowing that allows you to get to the right places at the right time to have those options.
• 13:09
  SPEAKER_01: Um, and then the other thing I always like to advocate for is if you know what your options are in advance, you can advocate for them.
• 13:18
  SPEAKER_01: And also if you don't want them, because not everyone wants testing and that's okay.
• 13:23
  SPEAKER_01: And I think that's another misconception about genetic counseling and testing is like, oh, well, they're just gonna force me to do those tests.
• 13:29
  SPEAKER_01: And the reality is like a good genetic counselor is there to really inform you of what's available and then help guide you to what's right for you, because oftentimes we don't know what we do until we're put in that situation.
• 13:41
  SPEAKER_01: And sometimes we clearly know what we want.
• 13:44
  SPEAKER_01: And what's right for you is going to be so different than what's right for your friend.
• 13:47
  SPEAKER_01: So I think I have a lot of patients who are like, well, my friend had that test.
• 13:51
  SPEAKER_01: I don't quite know if that's for me.
• 13:52
  SPEAKER_01: Or, you know, they said we had to have it or they had it this way.
• 13:56
  SPEAKER_01: But you you come to pregnancy with a whole lifetime of your own experiences and perception is everything, right?
• 14:04
  SPEAKER_01: So to the woman I spoke with a couple of weeks ago who's uh a NICU nurse, her perception is very different than someone else's who doesn't work with babies who have complications.
• 14:14
  SPEAKER_01: And so she's coming to me saying, like, listen, I'm coming to you because I'm I'm working with a child who has this condition and the parents had no idea and they're carriers.
• 14:22
  SPEAKER_01: And I just got married and I want to know if my husband and I are carriers.
• 14:25
  SPEAKER_01: Um, can we just do this testing now?
• 14:26
  SPEAKER_01: And then there are people who who are, you know, nothing's ever happened and they they don't think that there could be a concern, but now they're grateful that they know that there is options.
• 14:35
  SPEAKER_01: So that's kind of the before testing.
• 14:37
  SPEAKER_01: And I'll pause here to see if you have any kind of thoughts or questions to interact before I go into like the stuff you can do once you are pregnant.
• 14:42
  SPEAKER_00: Yeah, I was gonna ask, you were mentioning about like some testing is not for everyone.
• 14:48
  SPEAKER_00: And I think it's important to mention that like genetic counselor, like the counseling part is huge, and that you don't have to go to a genetic counselor and get every test that's on the list.
• 15:00
  SPEAKER_00: I think part of what you do that's incredible is being able to go through each test, inform on what it is that you're looking for when you're doing that test and walk them through the options.
• 15:11
  SPEAKER_00: Um, so I think that that already takes the intensity down a notch to have someone who is able to share information unbiased and kind of roll with what you're comfortable with.
• 15:23
  SPEAKER_00: How do you know?
• 15:24
  SPEAKER_00: Um, let me think about how to phrase this.
• 15:26
  SPEAKER_00: Obviously, genetic testing can be for everyone.
• 15:29
  SPEAKER_00: Are there certain testing profiles that belong to certain people?
• 15:34
  SPEAKER_00: Are there certain tests that people should get based on their history?
• 15:39
  SPEAKER_01: Yeah.
• 15:40
  SPEAKER_00: You're welcome to go into it.
• 15:41
  SPEAKER_01: Yeah, so a couple of things.
• 15:42
  SPEAKER_01: Yeah.
• 15:43
  SPEAKER_01: Yeah.
• 15:43
  SPEAKER_01: So I think, you know, certainly there's certain red flags that, if they pop up in your family history, it gets us thinking about certain testing.
• 15:50
  SPEAKER_01: So if someone comes to me and says, like, you know what, there's a family history of a specific condition and we're not quite sure what it is, but this is what it is.
• 15:57
  SPEAKER_01: We'll kind of work through what that might be and testing options that could help you better understand what your risk might be.
• 16:04
  SPEAKER_01: I think I before anyone ever does any genetic testing, one of the questions I always like to ask or get them to think about is what would having this information mean to you, right?
• 16:15
  SPEAKER_01: Will it change your management?
• 16:17
  SPEAKER_01: What does it mean for you?
• 16:18
  SPEAKER_01: Sometimes it's just about having peace of mind.
• 16:21
  SPEAKER_01: Other times it's about, sometimes it could be about your own health.
• 16:25
  SPEAKER_01: Like sometimes people are finding out that there's an increased risk of cancer for themselves.
• 16:29
  SPEAKER_01: And it means your management is going to change, right?
• 16:32
  SPEAKER_01: And sometimes that management might not change until a certain age.
• 16:34
  SPEAKER_01: And so we talk about is there utility in doing testing now or waiting for it?
• 16:38
  SPEAKER_01: Will that testing, doing that testing now, create more anxiety right now?
• 16:42
  SPEAKER_01: Are you the type of person that would want to wait until another time to do that testing?
• 16:47
  SPEAKER_01: And then there's certain conditions that are more common in certain ethnicities.
• 16:51
  SPEAKER_01: And so based on your ethnicity, we might talk about certain testing as well.
• 16:55
  SPEAKER_01: But nowadays, there's that ethnicity-based testing is kind of less and less common because we're doing panels that are more comprehensive and kind of capturing all ethnicities.
• 17:05
  SPEAKER_01: Because the reality is, even if you're not part of a particularly high-risk ethnicity for a condition, anyone could still theoretically be a carrier for and a lot of a lot of the times we might we might not even know our own ethnic background to really know and narrow it down.
• 17:20
  SPEAKER_01: And then there's testing, like say someone comes to me and says, I've had a couple miscarriages, right?
• 17:25
  SPEAKER_01: We talk about maybe we want to do a carrier type or understand more about your chromosomes to say, could you have a balanced translocation?
• 17:33
  SPEAKER_01: Like let's try to figure out what might have led to that miscarriage.
• 17:36
  SPEAKER_01: And if we know about it and we know the why, then maybe we can offer you different things moving forward that would make the chance of you having a miscarriage less moving forward.
• 17:46
  SPEAKER_01: And again, I think, you know, knowing this info in advance, like what happens is you go to your first OB appointment and you have your arm out for blood work, right?
• 17:54
  SPEAKER_01: And oftentimes most people don't even know is like, am I getting my iron levels, my thyroid levels, and hey, genetic testing as well, right?
• 18:01
  SPEAKER_01: It's just kind of bundled all in one.
• 18:03
  SPEAKER_01: Like you talk to your OB, you go to the lab, you get your blood drawn.
• 18:06
  SPEAKER_01: You're not, the breakdown is not really there so much.
• 18:09
  SPEAKER_01: And so if you know in advance what's happening, you can be so much more vocal and saying, like, listen, doctor, like I want an expanded carrier screen panel.
• 18:18
  SPEAKER_01: I want the largest panel that's possible.
• 18:20
  SPEAKER_01: Or you know what?
• 18:21
  SPEAKER_01: I actually don't want any of this because knowing this info now will create so much anxiety for me.
• 18:26
  SPEAKER_01: There's nothing I'm gonna do differently in my pregnancy.
• 18:28
  SPEAKER_01: I really don't want any any of this.
• 18:30
  SPEAKER_01: But if you don't know, then you can't advocate.
• 18:33
  SPEAKER_01: Yeah.
• 18:33
  SPEAKER_01: Um, you know, obviously they're there are people with all different perceptions.
• 18:38
  SPEAKER_01: And I think there's some people who come with a very religious background that say, like, well, what's the point in knowing anything if I wouldn't do anything to alter a pregnancy?
• 18:46
  SPEAKER_01: And to that person, I've I've seen I've seen all permutations, right?
• 18:52
  SPEAKER_01: I've seen people who are um who are kind of very pro-life decide to make a decision to not continue a very challenging pregnancy with a, with a lethal condition.
• 19:04
  SPEAKER_01: I've seen people, you know, change their mind midway through on things.
• 19:07
  SPEAKER_01: I think a lot of it boils down to oftentimes you don't know what what decision you'd make until it becomes your reality.
• 19:14
  SPEAKER_01: So coming into it with a very like black and white yes, no, like there's so many nuances that go into the equation.
• 19:21
  SPEAKER_01: And also knowing, knowing sometimes knowing in advance isn't always about stopping a pregnancy, right?
• 19:28
  SPEAKER_01: Knowing in advance could be about preparing yourself, like we talked about before, right?
• 19:32
  SPEAKER_01: Like getting yourself in the right place.
• 19:34
  SPEAKER_01: And oftentimes knowledge is power.
• 19:36
  SPEAKER_01: So, like, if you know your child is going to be born with certain health concerns, now you know, like, okay, as soon as that child is born, I'm gonna let the pediatrician know.
• 19:46
  SPEAKER_01: I'm gonna know when I see certain motor delays, like I'm gonna know why that's happening.
• 19:51
  SPEAKER_01: And we're gonna get the right occupational therapist and the physical therapist.
• 19:55
  SPEAKER_01: And we're not gonna keep guessing or having a pediatrician say, well, everyone grows at their own curve and like we'll wait a couple of years, let's wait until they're two.
• 20:02
  SPEAKER_01: Like, you know, like the reason my child might be having some of these delays is because of this, and now I can get on it.
• 20:09
  SPEAKER_01: And again, like this is all the stuff that we cover in the conversation in a genetic counseling session, right?
• 20:13
  SPEAKER_01: Because maybe you're the type of person that says, like, that's super important info, but I don't want to know about that until like baby's born.
• 20:19
  SPEAKER_01: And so you can always do testing once a child is born as well, but there might be, it might be a harder barrier to kind of get to some of the testing.
• 20:28
  SPEAKER_01: Testing often once a child is born won't happen unless there's some sign or symptom.
• 20:33
  SPEAKER_01: So then you're waiting for the sign or symptom for that.
• 20:36
  SPEAKER_01: So that's kind of the whole ups and downs of it of it all.
• 20:39
  SPEAKER_00: Yeah.
• 20:40
  SPEAKER_00: And it's so interesting.
• 20:41
  SPEAKER_00: I think I I definitely fall into like an in-between camp of like, well, I would want to know so that I can do as much research as I can if there's some kind of condition that I need to prepare for and can do that advocacy work.
• 20:55
  SPEAKER_00: But then the other side of me is like, well, do I want to know?
• 20:59
  SPEAKER_00: Because that's a really stressful pregnancy, I would imagine.
• 21:02
  SPEAKER_00: And so I imagine that that's something that you go through with your clients to be able to navigate what tests they want to do, what tests they don't want to do.
• 21:11
  SPEAKER_00: How does that kind of work for you on your end?
• 21:16
  SPEAKER_01: Yeah.
• 21:17
  SPEAKER_01: So I think a lot of it is understanding like how much figuring out with with the person I'm speaking with, like, how much do you want to know, right?
• 21:24
  SPEAKER_01: And like this is what, this is what we can know, this is what's available.
• 21:27
  SPEAKER_01: And so if someone comes to me and says, like, listen, our threshold for kind of anything unknown is really low.
• 21:34
  SPEAKER_01: Like we want to know as much as possible.
• 21:36
  SPEAKER_01: Then we talk about like all the different things.
• 21:39
  SPEAKER_01: The challenging part is we don't know what we don't know, right?
• 21:42
  SPEAKER_01: And so for someone like you who would come who's like, well, some of that info I do want to know, and some of it might actually cause more anxiety.
• 21:48
  SPEAKER_01: Well, let's break down where that like happy medium is, right?
• 21:52
  SPEAKER_01: So I always preface everything with like these things are super, super rare, right?
• 21:56
  SPEAKER_01: Like the greatest chances you know, you're gonna have a totally healthy, normal pregnancy.
• 22:00
  SPEAKER_01: Baby, and we talk so much about all the stuff that can go wrong that we fail to realize that the vast majority of pregnancies are totally fine and healthy.
• 22:08
  SPEAKER_01: But you know, we would break down, you know, there's carrier screening, for example, that would look at to see if you're a carrier, and then if you are, then your partner.
• 22:15
  SPEAKER_01: But that could be a huge relief for you because are you someone that'll go into pregnancy thinking, what if this could go wrong or what if that could go wrong?
• 22:22
  SPEAKER_01: And maybe knowing that you did the testing that was reasonable for you gives you that peace or that calm.
• 22:29
  SPEAKER_01: Like you're like, okay, well, I'm okay doing anything that's non-invasive, that's a blood test, but anything that would pose a potential risk to a pregnancy, like an invasive test that I'm not okay with.
• 22:39
  SPEAKER_01: And because I know that I did everything that I could that was available to me that made sense to me at that time, I feel good about it and I can move on and I recognize that there's an unknown.
• 22:50
  SPEAKER_01: So we always talk about like, there's always gonna you, there's no test that's gonna look for every risk possible.
• 22:56
  SPEAKER_01: And at some point, you're gonna have to find your threshold for what am I good with where I feel confident moving forward.
• 23:02
  SPEAKER_01: And I always tell people, like, do the stuff, like do the testing that feels right in that moment for you and trust that you are going to make the absolute best decision for you with the information you're given.
• 23:13
  SPEAKER_01: And then move forward, right?
• 23:15
  SPEAKER_01: Because we there's so much we can't control and we can't control our genetics.
• 23:19
  SPEAKER_01: Like we can't control how tall we're gonna be, color of our hair, color of our eyes, right?
• 23:23
  SPEAKER_01: These things just are.
• 23:24
  SPEAKER_01: And so, like, do the things that you feel you can control within those limits and know that what that is for you is gonna look different from someone else, and then let go of it and move forward and enjoy that pregnancy because that's that's part of it.
• 23:36
  SPEAKER_01: And and you know, yes, can something happen down the road?
• 23:40
  SPEAKER_01: Yes, you feel confident knowing that, hey, you know what, I made that right choice and I feel good about that choice that I made.
• 23:47
  SPEAKER_00: Yeah, it seems like it's so nuanced, like there's so much to it.
• 23:51
  SPEAKER_00: It's not so black and white.
• 23:53
  SPEAKER_00: Like you said, you get the folder that has all the information at your first OB appointment with genetic testing options, and it's either we're doing it or we're not.
• 24:02
  SPEAKER_00: And I think that there is so much nuance, and that's it's what's kind of incredible about what you're doing.
• 24:10
  SPEAKER_00: Um, what comes next in this process?
• 24:53
  SPEAKER_01: Yeah, so I think so there's the stuff that we talked about a lot, which was the stuff you can do before you're pregnant.
• 24:58
  SPEAKER_01: You can also do it once you are pregnant.
• 25:00
  SPEAKER_01: But once you are pregnant, you're getting information from the pregnancy, right?
• 25:04
  SPEAKER_01: So you now there's certain blood work that you can do that'll tell you if the pregnancy might be at an increased risk for certain chromosome conditions, right?
• 25:12
  SPEAKER_01: Like an extra or missing chromosome or pieces of information that are deleted or duplicated.
• 25:17
  SPEAKER_01: And that information, some of that information can be gathered via a blood test called NIPT or non-invasive prenatal testing.
• 25:25
  SPEAKER_01: And it's for a blood test, it's it's probably the best blood test we have out there to look for certain chromosome risks.
• 25:31
  SPEAKER_01: But some of the big takeaways that I always want people to understand is that it doesn't look at all the chromosomes.
• 25:37
  SPEAKER_01: It doesn't give you like a concrete yes or no answer, but it's non-invasive, meaning it doesn't pose a risk to the pregnancy because it's just a blood test on you.
• 25:45
  SPEAKER_01: And the way that you're getting that information is that genetic material, you know, you're in your blood, there's maternal DNA and fetal DNA.
• 25:53
  SPEAKER_01: And the fetal DNA component is coming off of the cells from the placenta.
• 25:57
  SPEAKER_01: So you're seeing, you're seeing actual genetic material from the placenta, which eventually goes on to make the fetus or the pregnancy, and you can see if there might be an increased risk from there.
• 26:07
  SPEAKER_01: So there are false positives, right?
• 26:09
  SPEAKER_01: There can be false positives and false negatives where you're being told there may be an increased risk, and in actuality, there isn't.
• 26:15
  SPEAKER_01: So the test isn't perfect in that way, but of the blood tests we have available, that is kind of the one with the best detection and the lowest false positive rate.
• 26:24
  SPEAKER_01: The tricky part that I see a lot of people kind of getting into trouble with is the way that it's marketed or the way that it's told is like, hey, this test will tell you if everything's okay.
• 26:36
  SPEAKER_01: And so people have it with a false reassurance, like everything was great.
• 26:39
  SPEAKER_01: Well, what they tested for on that test might have been good and great, but it's not looking at all like the full picture or all the chromosomes.
• 26:48
  SPEAKER_01: So again, if you're someone who says, I want to do everything possible to mitigate my risk of having a child with a complication, then it's a totally different conversation we're having.
• 26:57
  SPEAKER_01: And so that awareness of what is that test actually looking for?
• 27:00
  SPEAKER_01: What info is it giving you?
• 27:02
  SPEAKER_01: And are you someone who's okay with that information or understands the limitations of it and fine?
• 27:07
  SPEAKER_01: Or are you someone who says, Yeah, I want more?
• 27:10
  SPEAKER_01: Um, and to understand that is key.
• 27:12
  SPEAKER_01: Again, like there's that option to look for chromosome risk.
• 27:15
  SPEAKER_01: Then there's kind of more diagnostic testing, like an amniocentesis or CVS procedure where a needle goes in through the abdomen, takes out a bit of fluid.
• 27:23
  SPEAKER_01: And that one, you're looking at all chromosomes.
• 27:26
  SPEAKER_01: You're looking, you can do additional testing to see if there could be any like additional risks for things.
• 27:31
  SPEAKER_01: But even with that, even if you do as much as you can, there's still always a chance that something could happen.
• 27:36
  SPEAKER_01: Um, and again, it goes back to like there's some people who feel like knowing that or doing that will give them that peace of mind and they feel like they need to do it.
• 27:44
  SPEAKER_01: And that's what that's what makes sense to them.
• 27:46
  SPEAKER_01: Also, what's important to note is that we hear a lot about maternal age.
• 27:51
  SPEAKER_01: And so as a mom's age increases, as women get older in age, our eggs get older as well.
• 27:56
  SPEAKER_01: And so the theory that the chromosomes, the theory is that the chromosomes don't separate as well as we like them to, the older a woman is.
• 28:04
  SPEAKER_01: And so that risk is always there, right?
• 28:06
  SPEAKER_01: Like the risk to have a chromosome change exists, whether you're 15 or you're 50.
• 28:10
  SPEAKER_01: But that risk slightly increases every year as a woman ages.
• 28:14
  SPEAKER_01: And when you hit 37, it just increases at a faster rate.
• 28:17
  SPEAKER_01: And so for some women who are older than 35 or 37, they might consider, like, well, maybe I do want to learn a little bit more because the chance for something to happen is higher for me than, say, someone who might be in their early 30s.
• 28:31
  SPEAKER_01: Um, and so that can also come into the equation as well.
• 28:35
  SPEAKER_00: So from there, we're talking about in the pregnancy time frame.
• 28:40
  SPEAKER_00: Is there um like specific testing that gets done right in the beginning?
• 28:44
  SPEAKER_00: Some things that need to be done as the baby develops.
• 28:48
  SPEAKER_00: Um what does that look like?
• 28:52
  SPEAKER_01: Yeah, so if we're looking at a timeline, once you get pregnant, you can do um the carrier screening at any point, right?
• 28:59
  SPEAKER_01: And the non-invasive prenatal testing or NIPT testing is typically done only after nine or 10 weeks testation because um you need enough of the fetal DNA to be circulating in your blood to get accurate results for that.
• 29:15
  SPEAKER_01: So that typically won't be offered before 10 weeks.
• 29:18
  SPEAKER_01: And then after that, the decision to have a diagnostic test like an amnio, some people may decide to have it if they have concerning results in NIPT.
• 29:26
  SPEAKER_01: Like if your NIPT results come back and say, hey, there's an increased risk.
• 29:30
  SPEAKER_01: But the only way for us to confirm those results, and again, that's a huge, huge thing as well, if if something comes back concerning NIPT, know that there can be false positives and that there is additional testing to clarify those results that will be needed to be, will need to be done.
• 29:46
  SPEAKER_01: And that testing is a diagnostic test like an amnio or a CVS.
• 29:50
  SPEAKER_01: And so those procedures are done.
• 29:52
  SPEAKER_01: An amnio is done typically anytime after 15 weeks gestation.
• 29:56
  SPEAKER_01: A CVS is done kind of around 11 weeks, 10 and a half, 11 weeks gestation.
• 30:00
  SPEAKER_01: And both of those uh are are invasive, so they do come with a risk of complications that could lead to miscarriage.
• 30:06
  SPEAKER_01: And that miscarriage rate will vary from center to center.
• 30:10
  SPEAKER_01: On average, it's like a one out of 700 chance for a complication to occur.
• 30:16
  SPEAKER_01: So um, so again, that's info that kind of we we would go over kind of in a session typically as well.
• 30:21
  SPEAKER_01: So timeline-wise, so that's kind of there.
• 30:23
  SPEAKER_01: And then the next real checkpoint is around 20 weeks gestation.
• 30:27
  SPEAKER_01: At that point, baby is big enough to take a close look at all the organs, the ventricles of the brain, chambers of the heart, make sure everything is growing and developing.
• 30:36
  SPEAKER_01: And if something comes up concerning there, from a genetic perspective, the question that we always have is okay, is the hypothetical heart condition we're seeing part of a larger syndrome?
• 30:47
  SPEAKER_01: Could it, could there be other things that are involved, or is this just isolated?
• 30:51
  SPEAKER_01: And so, based on what we're seeing on an ultrasound, we might offer you specific testing to better understand, you know what, is there a genetic reason or a change in the genes that's causing some of the things in the baby's development not to develop the way that we'd expect?
• 31:07
  SPEAKER_01: And so then we talk further about that.
• 31:09
  SPEAKER_01: Um, but then after that 20-week point, if everything's kind of growing and looking well, there isn't anything further from a genetic perspective that that we would do.
• 31:18
  SPEAKER_01: And then I'll kind of rewind.
• 31:19
  SPEAKER_01: There are some conditions that if you were to find out baby is affected with, you could do in utero therapy for as well.
• 31:27
  SPEAKER_01: So to kind of help kind of in that moment.
• 31:29
  SPEAKER_01: So to go back to the question of, well, what's the point in knowing any of this information if there's nothing I can do?
• 31:35
  SPEAKER_01: For some conditions, there is something you can't do while you're pregnant to improve the outcomes or the health of baby.
• 31:42
  SPEAKER_00: Can we talk a little bit about what those are?
• 31:46
  SPEAKER_01: Yeah.
• 31:46
  SPEAKER_01: So there's, I think it's it's hard to, because it really depends on the specific conditions, but there can be, if there's like a structural change, there can be some in utero like minor surgery that can be done.
• 31:57
  SPEAKER_01: If there's treatment for, like if there's a missing enzyme that's causing a specific condition, you can do in utero therapy to kind of give administer a certain medication or something to help within that development uh period.
• 32:12
  SPEAKER_01: So those are all things that would be done by a highly specialized fetal center, high-risk maternal fetal medicine doctor, and a whole kind of team of people.
• 32:20
  SPEAKER_01: But though those are kind of ultimately like the broad umbrella would be treatments that can help while the baby is developing at critical points of the development to mitigate or to lessen the impact of what might happen to baby.
• 32:34
  SPEAKER_00: Do you want to talk a little bit more about IVF and donor health and kind of those reproductive decision making?
• 32:43
  SPEAKER_00: Yeah.
• 32:44
  SPEAKER_01: Yeah, absolutely.
• 32:45
  SPEAKER_01: So I think what leads people to IVF, there's so many different avenues that get that get people to IVF.
• 32:50
  SPEAKER_01: So one of them could just be difficulty getting pregnant.
• 32:54
  SPEAKER_01: Another one could be that maybe there is something in maternal or paternal health that prevents you from conceiving without assisted technology.
• 33:03
  SPEAKER_01: And then there are people who want to use a donor.
• 33:06
  SPEAKER_01: So either a donor egg or donor donor sperm.
• 33:08
  SPEAKER_01: So a lot of the work we do is actually with donors where people are considering using a donor for whatever reason it may be.
• 33:15
  SPEAKER_01: And when we're looking at donor profiles, we really try to look at the family history, look at their carrier screening reports, make sure that the donor and the other kind of reproductive partner, their carrier screening doesn't bring up any red flags where they're both not carriers for the same condition.
• 33:34
  SPEAKER_01: But a lot of the times, intended parents are trying to choose between multiple donors and they're trying to say, like, what's the best, best fit?
• 33:41
  SPEAKER_01: And I think, and when we go back to the counseling aspect of it, like if you think about it, there's so much pressure to choose a donor, right?
• 33:48
  SPEAKER_01: Like you're you're there thinking, like, I have to pick the perfect donor because that onus is on me now.
• 33:53
  SPEAKER_01: Where most of us who are conceiving without a donor, you know, we're just we have a partner and we're like, we're conceiving.
• 34:00
  SPEAKER_01: We're not going through all the different traits and the family history.
• 34:03
  SPEAKER_01: We're just, we're taking it as is.
• 34:05
  SPEAKER_01: But that undue layer of pressure is there when you're trying to select a donor.
• 34:08
  SPEAKER_01: And that's that is a real thing where you feel that.
• 34:11
  SPEAKER_01: So to kind of like release a little bit of that too, I think is important.
• 34:15
  SPEAKER_01: And so kind of looking through those donor health histories, figuring out who's the best kind of match based on certain genetic profiles as well.
• 34:22
  SPEAKER_01: Um, and then also like knowing how to choose a donor agency, right?
• 34:27
  SPEAKER_01: Like you want to pick a donor agency that is thoughtful in terms of have they had donors go through a psychological screen?
• 34:35
  SPEAKER_01: Have they gone through, has the donor met with a genetic counselor to really elicit a proper family history?
• 34:40
  SPEAKER_01: Because oftentimes it's just like a piece of paper or an intake where it's like, let's quickly jot down.
• 34:46
  SPEAKER_01: I say that flippantly, but I doubt it's quickly jotted down.
• 34:49
  SPEAKER_01: But I think, you know, it's it's either like a self-reported form where the donor is reporting their health history, but then there's donor agencies who actually work with genetic counselors who interview the donor and really get the right family history because the answers you get are only as good as the questions you ask.
• 35:05
  SPEAKER_01: And so if you're not asking the right questions, you may be missing something or putting it out of context.
• 35:09
  SPEAKER_01: So if, for example, someone comes to me and says, you know, oh, like there's a family history of cancer, well, we want to know who, what type of cancer, at what age, are there additional family members who've had cancer?
• 35:20
  SPEAKER_01: And the answers to that will really help shape whether or not we think there's an increased risk for offspring of that donor to have cancer, or if it's just kind of more general population risk.
• 35:31
  SPEAKER_01: But if someone just writes family history of cancer, you know, that may not be good enough.
• 35:36
  SPEAKER_01: So those are some of the things that that we kind of look for.
• 35:38
  SPEAKER_01: And I'm just trying to think about other considerations as well.
• 35:41
  SPEAKER_01: So the uh so the other thing with IVF that happens a lot is sometimes people are going through IVF because there is a genetic condition in their family and they have a specific variant or a change in a gene that they know is occurring.
• 35:54
  SPEAKER_01: And then they're they're choosing to create embryos and test embryos with the goal of only transferring healthy embryos.
• 36:02
  SPEAKER_01: So this can happen.
• 36:03
  SPEAKER_01: I've seen patients where they've had a child born with a particular condition and now they're ready for their second or third child, and they don't want to have that same risk again.
• 36:14
  SPEAKER_01: And so they'll go through IVF to select embryos that are not affected.
• 36:17
  SPEAKER_01: So I think a lot of times there's this misconception about like, oh, it's a designer baby, and we're picking and choosing traits.
• 36:24
  SPEAKER_01: The things that people are picking and choosing are really serious health conditions where babies are either dying from or having severe health issues.
• 36:34
  SPEAKER_01: It's not like hair color and whether they're athletically inclined.
• 36:38
  SPEAKER_01: And, you know, it's not kind of in that realm where people think like, oh, it's picking and choosing traits where we're getting rid of like certain features.
• 36:47
  SPEAKER_01: It's not so much that.
• 36:48
  SPEAKER_01: Um, and I think it's such a personal decision because your perspective, your life experience is really shaping the decisions that you make here, right?
• 36:57
  SPEAKER_01: And so, like, if I talk to someone who's doing IVF to select for an adult onset condition like breast cancer, maybe there's someone who has seen their mother die, their aunt die, their sister die, and they're like, I don't want my child to ever have to think about this or my future, the any future generations that I'm going to do IVF to make sure that I don't transfer an embryo that has this particular genetic change versus someone who might look at that and say, well, that's an adult onset condition.
• 37:27
  SPEAKER_01: When my child's old enough, they can make that decision for themselves and what they want to do.
• 37:31
  SPEAKER_01: And that's not something I'd really want to do IVF for.
• 37:34
  SPEAKER_01: Neither is right or wrong.
• 37:35
  SPEAKER_01: It's just what makes sense for that person at that point, given their whole kind of life experience.
• 37:41
  SPEAKER_00: Yeah.
• 37:42
  SPEAKER_00: Yeah.
• 37:42
  SPEAKER_00: And I think it's so interesting the the point you make about like they're not choosing for like hair color and eye color.
• 37:49
  SPEAKER_00: And um, a lot of times they are making a decision that's a hard choice either way.
• 37:57
  SPEAKER_00: I have a um a friend who was a podcast guest or very early episodes who had a family history of Huntingtons.
• 38:05
  SPEAKER_00: Um, her dad had Huntingtons, both of her brothers had Huntingtons, all three have since passed, and she was a carrier.
• 38:12
  SPEAKER_00: So she knew right away that she did not want to pass that on to her her offspring.
• 38:18
  SPEAKER_00: And so you it she had a a pool of embryos that she was able to use through genetic testing that did not carry for Huntingtons.
• 38:27
  SPEAKER_00: And I know how hard it was for her to choose which which one she was gonna use based on uh gender, or I think at this point she had, I mean, I want to say like four or five embryos that tested without carrying the gene.
• 38:44
  SPEAKER_00: And so deciding which ones she was gonna keep and which ones she was like gonna bring to life, I guess, um, was hard was a hard decision.
• 38:54
  SPEAKER_01: So it's yeah, I think you know, it's important, you know, when you when you're starting out on that IBF journey, the reproductive endocrinologist really is kind of your go-to person.
• 39:06
  SPEAKER_01: And they'll kind of, depending on where you're at, there may be a genetic counselor who works within that setting where you'll be asked to meet with to go over kind of all your options.
• 39:16
  SPEAKER_01: But sometimes there isn't, right?
• 39:18
  SPEAKER_01: Or sometimes what happens is, you know, you're getting piecemeal information, but no one's there to put it together from a genetic perspective.
• 39:25
  SPEAKER_01: And in that case, I would say advocate for yourself and find a genetic counselor who can put all the pieces together for you.
• 39:32
  SPEAKER_01: Because sometimes what happens is, you know, you get carrier screening done, and then you get your results and you're speaking, you know, maybe you're speaking with someone from a lab to review those results, but then you have other testing that you need to get done, and you're there's no like cross-communication.
• 39:48
  SPEAKER_01: So definitely advocate to speak with a genetic counselor who can really walk you through, you know, based on what your reason for IVF is, why you're why you're getting this testing done, or why you're going through this process, but also to better understand what are my options once I am pregnant.
• 40:04
  SPEAKER_01: And I think sometimes that is so far down the pike because when you're going through IF, all you can think about is I just want to get pregnant, but you're not even thinking about the testing options that exist once you are pregnant and what that might look like.
• 40:20
  SPEAKER_00: Yeah, and I think there is so much going on at that, at that point.
• 40:25
  SPEAKER_00: Like you've you are starting or have gone through IVF, and like the goal is just to have a baby, but there's so many decisions that go through that.
• 40:35
  SPEAKER_00: I think, um, like you said, there's a million testing, there's so many different people you're working with.
• 40:40
  SPEAKER_00: I'm sure having someone like you be able to kind of synthesize all that's needed and create uh like a safer reality for your clients to say, here's what the options are, this is what it actually looks like.
• 40:54
  SPEAKER_00: Because I imagine it's very daunting without someone who can get the whole picture.
• 41:00
  SPEAKER_01: Yeah, or sometimes because the focus is so much on like getting pregnant, certain things are just missed, right?
• 41:05
  SPEAKER_01: So, like the number of times I've seen someone who's coming to me just for like a general consultation, and I'm like, wait a second, this was in your family history and it no one ever offered you additional testing for this.
• 41:16
  SPEAKER_01: Or wait a second, you've had two miscarriages, but no one offered you a karyotype.
• 41:21
  SPEAKER_01: Like, let's get that done.
• 41:22
  SPEAKER_01: Like, maybe that's what's causing it.
• 41:24
  SPEAKER_01: And so it's a way to kind of slow things down, look at things more diligently, because it might not be on your radar or even your reproductive endocrinologist radar necessarily, because they might have thought, like, oh, at some point someone must have covered this, but there's people that are well into their journey and no one's offered them a carrier screening.
• 41:43
  SPEAKER_01: And it's like, wait, but like, don't you want to know this earlier?
• 41:46
  SPEAKER_01: Because if you're going through, and and I see this way too many times, like where someone's going through IDF because they've just had challenges conceiving, um, and they're already like they're ready to cycle.
• 41:57
  SPEAKER_01: And then all of a sudden you find out that they're a carrier for something.
• 42:00
  SPEAKER_01: And you're like, this could have been done way before, and now you're already at this juncture and you've spent all this time and you're ready to roll, but like now we're telling you to put the brakes on things, and it's a really frustrating process because your body is like ready to go, but you're told, wait a second, there might be some risk.
• 42:17
  SPEAKER_01: We're gonna have to delay things, and then you've got to start all over again.
• 42:21
  SPEAKER_01: Or it's also the reality of like having someone walk you through, like we talk about IVF and the testing process very like, you know, like how it would look on paper.
• 42:30
  SPEAKER_01: But the reality is like you can go through all this testing and the embryo may not take, and then you've got to go through the whole thing again.
• 42:36
  SPEAKER_01: And maybe there's a couple things you're screening for when you're testing embryos, and then you realize, like, okay, well, by the time I screen for all this, I might not have enough embryos, right?
• 42:45
  SPEAKER_01: So, like, what what do I want to do at that point?
• 42:48
  SPEAKER_01: Or which embryo do I transfer out of the ones that maybe do have, you know, certain results that aren't, you know, ideally you want like, you know, chromosomally healthy embryo to transfer, but say there it are subtle changes.
• 43:00
  SPEAKER_01: Like, is it okay to transfer an embryo that has a certain change?
• 43:03
  SPEAKER_01: And that's a whole other discussion, too.
• 43:06
  SPEAKER_00: Yeah, it's so balanced and highly individualized.
• 43:11
  SPEAKER_00: I can absolutely see why it would be like necessary to get through the process with someone like you, kind of side by side, um, navigating each step, because everyone's journey is going to be completely different.
• 43:27
  SPEAKER_01: Yeah.
• 43:27
  SPEAKER_01: Yeah.
• 43:28
  SPEAKER_01: And I think the experience, like it's just this, the the medical system isn't designed to have someone sit with you and go through it in like such details.
• 43:36
  SPEAKER_01: Like you think to like your regular OB appointments, like it's 10, 15 minutes.
• 43:40
  SPEAKER_01: There's no way you can have such a meaningful conversation in just that time.
• 43:45
  SPEAKER_01: And for the OB to cover all the other things they need to do, to like do your physical exam, offer you all the other blood work, look for your infectious disease screening.
• 43:53
  SPEAKER_01: Like, there's so much going on.
• 43:54
  SPEAKER_01: So a lot of the these topics are glossed over, but they're major topics that I think the perspective that I have is kind of like a few weeks down the pike, where then I'm seeing people that have concerns that are like, I wish I knew this earlier, or no one talked to me about this, or I had no idea that I was even being tested for this.
• 44:10
  SPEAKER_01: And I'm pissed off because I didn't want to be tested for this.
• 44:13
  SPEAKER_00: Yeah.
• 44:14
  SPEAKER_00: Yeah, you've talked obviously throughout, have talked a little bit of what it looks like to work with you.
• 44:19
  SPEAKER_00: Do you want to talk a little more in depth about what um genetic counseling would look like with you?
• 44:25
  SPEAKER_01: Yeah, absolutely.
• 44:26
  SPEAKER_01: So there's um there's a couple things that I'm working on.
• 44:29
  SPEAKER_01: So there's the traditional like one on one sessions, right?
• 44:32
  SPEAKER_01: Like you can go book a session to chat if you if you're someone who's who's thinking like, Well, we're planning a pregnancy.
• 44:38
  SPEAKER_01: I just don't know what I don't know.
• 44:40
  SPEAKER_01: And I want to be informed and I want to make the best decisions for me, or maybe there is something in my family history.
• 44:45
  SPEAKER_01: The process is just, you know, you schedule an appointment like you would with any other provider.
• 44:49
  SPEAKER_01: And then we sit down.
• 44:50
  SPEAKER_01: And all my whole practice is via telemedicines.
• 44:53
  SPEAKER_01: It depends on my ability to see someone depends on the states that I'm licensed in.
• 44:58
  SPEAKER_01: And then we would have that conversation.
• 45:01
  SPEAKER_01: And in a typical session, we would go through, you know, any specific questions you have, but I would do a very detailed family medical history assessment.
• 45:09
  SPEAKER_01: And then we'd talk about all the different testing options kind of that are available to you.
• 45:13
  SPEAKER_01: We'd work through, you know, what are some of the concerns you have, if any, and then come up with a plan for what might be the right next step.
• 45:23
  SPEAKER_01: And if there is testing that you can initiate early on, we'd talk about ordering that testing, what that would look like, getting you that information and what the next steps would be, what are the potential results that would come back?
• 45:34
  SPEAKER_01: How would we feel about the potential results and what we would do with it?
• 45:38
  SPEAKER_01: Um, and then the other thing that I'm a huge advocate for is obviously getting that info accessible and available to everyone.
• 45:46
  SPEAKER_01: Because I think depending on where you live, there may not be a genetic counselor for you to chat with, or your OV may not even offer you all these options, right?
• 45:54
  SPEAKER_01: Like it's doing telemedicine is really fascinating because I'll talk to two women, same age, same situation, but both are being offered things that are vastly different.
• 46:03
  SPEAKER_01: And you're like, wow, that that's a huge injustice.
• 46:06
  SPEAKER_01: Like, why does someone not get offered certain things or even know that some things are an option, whereas others are?
• 46:13
  SPEAKER_01: So I create like I try to do different um live webinars or info sessions where I'll talk about testing options just as a primer, like as someone who's just curious.
• 46:23
  SPEAKER_01: Like maybe there is nothing specific in your own family history, but you're just like, I want to know what's available to me.
• 46:29
  SPEAKER_01: So I I host some of these online sessions like periodically throughout, just so you can know exactly what to be thinking about and what questions you should be going to your OB with when you do, when you are ready to go plan a pregnancy.
• 46:42
  SPEAKER_00: Yeah.
• 46:43
  SPEAKER_00: Do you have anything coming up?
• 46:45
  SPEAKER_00: What's what's going on for fine genetics?
• 46:48
  SPEAKER_01: Yeah.
• 46:48
  SPEAKER_01: So I am um I am working on my next live session where I kind of give this information online, kind of, you know, what your genes are trying to tell you is the topic in terms of like what's available to you for your options.
• 47:02
  SPEAKER_01: And that is um right now I'm still working on the final date of when to do it, but there is a running signup sheet and I kind of max it at a certain capacity so that there can be meaningful conversation that happens or question and answer.
• 47:17
  SPEAKER_01: And then I'm also building uh uh, I guess a program where people can get this information, but then have access to live one-on-one, like live QA calls weekly where they can just log in and ask questions.
• 47:30
  SPEAKER_01: Cause I find that like we process information, we read the information, and then you're like, okay, I have no questions.
• 47:35
  SPEAKER_01: And then like a week later, you're like, wait, wait, but I do have this question now.
• 47:38
  SPEAKER_01: Or now I went to my doctor and they talked about X.
• 47:41
  SPEAKER_01: What is that?
• 47:41
  SPEAKER_01: What does that mean?
• 47:42
  SPEAKER_01: Or my results came back in general.
• 47:44
  SPEAKER_01: Like, what does that mean?
• 47:45
  SPEAKER_01: So to have that ongoing support where it's more of a casual conversation.
• 47:50
  SPEAKER_01: It's kind of like, I like to think of it as like, what if everyone had a friend who was a genetic counselor that they could just chat with or like text if there was a question that came up?
• 47:59
  SPEAKER_01: Um, so to have that kind of ongoing support is something that I'm building.
• 48:02
  SPEAKER_01: Again, it's like one of those things where um I want to see if there's an interest for it, right?
• 48:07
  SPEAKER_01: Like, is this something, this is like a theory of mine that people might be interested in?
• 48:11
  SPEAKER_01: But I don't, I don't know for real if people are in.
• 48:13
  SPEAKER_01: So I'm kind of playing around with that.
• 48:15
  SPEAKER_01: Just creating better ways to create better access for information and support that otherwise doesn't exist.
• 48:22
  SPEAKER_00: Yeah.
• 48:22
  SPEAKER_00: Well, tell everyone where they can find you.
• 48:24
  SPEAKER_00: And if they are interested in something like this, they can reach out to you directly and let you know.
• 48:29
  SPEAKER_01: Yeah, absolutely.
• 48:30
  SPEAKER_01: So you can find me at on Instagram at at at find genetics, f-in d genetics.
• 48:36
  SPEAKER_01: Um, and also the website is www.findgenetics.com, LinkedIn if you want to look at my professional profile.
• 48:44
  SPEAKER_01: It's find genetics or just my name.
• 48:46
  SPEAKER_01: So all different ways and yeah, best ways to reach me.
• 48:50
  SPEAKER_00: Awesome.
• 48:50
  SPEAKER_00: Well, thank you so much for for sharing about the work that you're doing.
• 48:54
  SPEAKER_00: I imagine it's having incredible impact on the people that you're working with and the outcomes probably show for themselves.
• 49:01
  SPEAKER_00: But uh, thank you so much for being here.
• 49:03
  SPEAKER_00: I appreciate your time.
• 49:04
  SPEAKER_01: You're very welcome.
• 49:06
  SPEAKER_01: Thank you.
• 49:07
  SPEAKER_00: If this conversation resonated with you, I'd love for you to follow the podcast wherever you listen and share it with another mom building something meaningful.
• 49:16
  SPEAKER_00: If you want deeper behind the scenes reflections that I don't share anywhere else, join my email list at themakingpodcast.com.
• 49:24
  SPEAKER_00: Thank you for being here, and I'll see you next time.